Canonical Allele Identifier: CA915941371

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 801531
• ClinVar RCV Id: RCV000986391
• dbSNP Id: rs1570877567

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102961856_102961866del , CM000663.2:g.102961856_102961866del	GRCh38
NC_000001.10:g.103427412_103427422del , CM000663.1:g.103427412_103427422del	GRCh37
NC_000001.9:g.103200000_103200010del	NCBI36
NG_008033.1:g.151633_151643del
NG_008033.2:g.151633_151643del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3168+2_3168+12del
ENST00000353414.8:c.3051+2_3051+12del
ENST00000358392.6:c.3204+2_3204+12del
ENST00000370096.7:c.3168+2_3168+12del
ENST00000465209.1:n.178_188del
ENST00000512756.5:c.2820+2_2820+12del
ENST00000635193.1:c.2502+2_2502+12del
NM_001190709.1:c.3051+2_3051+12del
NM_001854.3:c.3168+2_3168+12del
NM_080629.2:c.3204+2_3204+12del
NM_080630.3:c.2820+2_2820+12del
XM_011540719.1:c.3168+2_3168+12del
XM_011540720.1:c.1401+2_1401+12del
XM_011540721.1:c.756+2_756+12del
NR_134980.1:n.3502+2_3502+12del
XM_017000334.1:c.3321+2_3321+12del
XM_017000335.1:c.3315+2_3315+12del
XM_017000336.1:c.3321+2_3321+12del
XM_017000337.1:c.1719+2_1719+12del
NM_001854.4:c.3168+2_3168+12del
NM_080630.4:c.2820+2_2820+12del
NR_134980.2:n.3528+2_3528+12del
NM_001190709.2:c.3051+2_3051+12del
NM_080629.3:c.3204+2_3204+12del